Abstract
We report prenatal diagnosis of polysplenia syndrome in two cases of fetal bradycardia associated with complex cardiac abnormalities. Both cases were found during pregnancy to have congenital heart block and to have on ultrasound no spleen demonstrable. At autopsy, both cases were found to have polysplenia syndrome with complex cardiovascular anomalies.
Polysplenia is one of the syndromes which presents as a defect of lateralization. The most frequent manifestations besides polysplenia are pulmonary isomerism of the left lung, abdominal heterotaxia and complex congenital heart disease. The mortality rate 1s very high. Only 10% of the patients live to adolescence. In the subgroup of polysplenia, which presents with congenital heart block, the mortality is even higher. Although most of the cases of polysplenia are sporadic, there are reports of familial clustering of defects of lateralization (e.g., polysplenia, asplenia, situs inversus totalis and Kartagener syndrome) which raise the possibility of autosomal recessive transmission, thus the availability of prenatal diagnosis Is desirable for subsequent pregnancies.
Our cases were found by careful pregnancy monitoring during which congenital heart block was observed. Ultrasound can usually delineate complex cardiac anomalies and documentation of an absent spleen can enable more accurate diagnosis, prognosis and management.
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Chitayat, D., Lau, A., Hall, J. et al. PRENATAL DIAGNOSIS OF POLYSPLENIA SYNDROME. Pediatr Res 21 (Suppl 4), 225 (1987). https://doi.org/10.1203/00006450-198704010-00356
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DOI: https://doi.org/10.1203/00006450-198704010-00356